Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Haematologica

Volumn 95, Issue 12, 2010, Pages 2080-2087

  Rohr, Jan ^a   Beutel, Karin ^b   Maul Pavicic, Andrea ^a   Vraetz, Thomas ^a   Thiel, Jens ^a   Warnatz, Klaus ^a   Bondzio, Ilka ^a   Gross Wieltsch, Ute ^c   Schündeln, Michael ^d   Schütz, Barbara ^e   Woessmann, Wilhelm ^f   Groll, Andreas H ^g   Strahm, Brigitte ^a   Pagel, Julia ^b   Speckmann, Carsten ^a   Janka, Gritta ^b   Griffiths, Gillian ^h   Schwarz, Klaus ^a,i   Stadt, Udo Zur ^b,j   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c OLGAHOSPITAL   (Germany)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

^f JUSTUS LIEBIG UNIVERSITY   (Germany)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁱ German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

^j Research Institute   (Germany)

more..

Author keywords

Familial hemophagocytic lymphohistiocytosis; Mutations; STXBP2; UNC13D

Indexed keywords

GENE PRODUCT; INTERLEUKIN 2; PROTEIN STXBP2; PROTEIN UNC13D; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; BACTERIAL INFECTION; CD8+ T LYMPHOCYTE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; CYTOTOXICITY; DEGRANULATION; ENCEPHALITIS; EPSTEIN BARR VIRUS INFECTION; GENE; GENE MUTATION; GENETIC ANALYSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFECTION SENSITIVITY; LIVER GRANULOMA; LUNG GRANULOMATOSIS; LYMPHOCYTE COUNT; LYMPHOMA; MEMORY CELL; MOUSE; NATURAL KILLER CELL; NONHUMAN; PATHOGENESIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; SCHOOL CHILD; STXBP2 GENE; T LYMPHOCYTE ACTIVATION; UNC13D GENE;

ADOLESCENT; ADULT; ALLELES; B-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CELL DEGRANULATION; CELL LINE, TUMOR; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CYTOTOXICITY, IMMUNOLOGIC; FLOW CYTOMETRY; GENE FREQUENCY; HUMANS; IMMUNOGLOBULIN G; IMMUNOLOGIC DEFICIENCY SYNDROMES; K562 CELLS; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MEMBRANE PROTEINS; MUNC18 PROTEINS; MUTATION; RNA SPLICE SITES;

EID: 78649897442     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.029389     Document Type: Article

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